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使用下一代测序技术识别了一种新型RSRC1-ALK (R6:A20) 融合

Jingjing Xia¹, Sheng Chen², Zhujian Zhang³

¹Department of Medical Examination, Huai'an First People's Hospital, Nanjing Medical University, Huai'an 223300, PR China.

Cancer genetics

|August 12, 2023

概括

下一代测序发现了非小细胞肺癌 (NSCLC) 中的新型RSRC1-ALK融合. 这一发现导致了安萨丁尼布的向治疗,实现了超过24个月的无进展生存期.

科学领域:

在瘤学瘤学.
分子生物学分子生物学
遗传学是一个遗传学.

背景情况:

无细胞淋巴瘤激酶 (ALK) 融合是非小细胞肺癌 (NSCLC) 的关键驱动突变.
ALK氨酸激酶抑制剂 (TKIs) 为ALK融合的NSCLC患者提供有效的治疗.
准确检测ALK融合对于指导TKI治疗选择至关重要.

研究的目的:

在患有非小细胞肺癌 (NSCLC) 的患者中确定ALK融合.
调查氨酸激酶抑制剂 (TKI) 治疗的潜在益处.
报告一个新的RSRC1-ALK融合及其临床影响.

主要方法:

使用了光在位杂交 (FISH),免疫组织化学 (IHC) 和下一代测序 (NGS).
国家基因系统检测到一种新的RSRC1-ALK (R6:A20) 融合.
桑格测序证实了ALK基因重组,存在于80%的瘤细胞中.

主要成果:

手术后的病理分析揭示了侵入性和最小侵入性腺癌.
一种新的RSRC1-ALK融合 (RSRC1的6个外显子和ALK的20个外显子) 被NGS确定.
免疫组织化学证实了ALK阳性表达,患者在恩萨尔提尼布治疗中实现了超过24个月的无进展生存.

结论:

下一代测序是识别NSCLC中新型ALK融合的一个有价值的工具.
使用恩萨尔提尼布的向疗法在患有RSRC1-ALK融合的患者中显示出显著的疗效.
早期检测和针对性治疗ALK融合改善NSCLC患者的结果.

关键词:

在ALK的融合突变中.在ASB3-ALK中.非小细胞肺癌是非小细胞肺癌.这就是RSRC1-ALKK.同步多重原发性肺癌是同步的.

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